Schwartz-Jampel syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
G71.1 Myotonic Syndromes
ICD-10 online (WHO version 2019)

The Schwartz-Jampel Syndrome (SJS) is a very rare congenital malformation syndrome with the main characteristics of generalized myopathy and skeletal dysplasia .

Synonyms are: Aberfeld syndrome; Burton's skeletal dysplasia; Burton's Syndrome; Catel-Hempel Syndrome; Chondrodystrophy, myotonic; Chrondrodystrophia myotinica; Dysostosis enchondralis metaepiphysaria of the Catel-Hempel type; Osteo-chondro-muscular dystrophy

The names refer to the authors of the first description from 1962 by the American pediatrician Oscar Schwartz and neuro-ophthalmologist Robert Steven Jampel and a comment by Donald C. Aberfeld from 1979.

Classification

A distinction can be made between the

  • classic form ( Schwartz-Jampel-Aberfeld syndrome; Schwartz-Jampel syndrome type 1 )
  • neonatal form ( neonatal Schwartz-Jampel syndrome; Schwartz-Jampel syndrome type 2 ), for the latter see Stüve-Wiedemann syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 100 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in HSPG2 - gene on chromosome 1 locus p36.12 basis which for perlecan coded.

Clinical manifestations

Clinical criteria are:

often also myopia , cataract , stridor , hypoplasia of the larynx , keel chest , hip dysplasia or kyphosis. Sometimes deep-seated, malformed ears and microgenius can come into play.

diagnosis

In the X-ray image are often found flattened vertebral bodies , hip dysplasia, curved diaphysis and irregular epiphyses . The myotonia can be detected in electromyography , the Perlecan deficiency using immunocytochemistry in biopsies .

Differential diagnosis

The Stüve-Wiedemann syndrome and severe forms of congenital myotonia as well as the Marden-Walker syndrome are to be distinguished .

literature

  • JR Martinez, BJ Grindel, KM Hubka, GR Dodge, MC Farach-Carson: Perlecan / HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome. In: Journal of cellular biochemistry. [electronic publication before printing] September 2018, doi: 10.1002 / jcb.27521 , PMID 30203597 .
  • MF Stevens, E. Golla, P. Lipfert: Intra- and postoperative analgesia with caudal catheter in a child with Schwartz-Jampel syndrome. In: The anesthesiologist. Volume 55, Number 5, May 2006, pp. 555-560, doi: 10.1007 / s00101-005-0967-2 , PMID 16389541 .
  • K. Milachowski, W. Keyl, TN Witt: The Schwartz-Jampel syndrome. Orthopedic and neurological problems of chondrodystrophic myotoniaThe Schwartz-Jampel syndrome. In: Journal of Orthopadics and their Frontier Areas. Volume 120, Number 5, 1982 Sep-Oct, pp. 657-661, doi: 10.1055 / s-2008-1051372 , PMID 7180100 .
  • J. Spranger, BD Hall, B. Häne, A. Srivastava, RE Stevenson: Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. In: American journal of medical genetics. Volume 94, Number 4, October 2000, pp. 287-295, PMID 11038441 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d e Schwartz-Jampel syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ Who named it
  4. ^ O. Schwartz, RS Jampel: Congenital blepharophimosis associated with a unique generalized myopathy. In: Archives of ophthalmology. Volume 68, July 1962, pp. 52-57, PMID 13909723 .
  5. ↑ DC Aberfeld: Chondrodystrophic myotonia versus Schwartz-Jampel Syndrome. In: Annals of neurology. Volume 5, Number 2, February 1979, p. 210, doi: 10.1002 / ana.410050222 , PMID 426490 .
  6. ↑ Schwartz-Jampel syndrome, type 1.  In: Online Mendelian Inheritance in Man . (English)

Web links